Incidental Mutation 'R9652:Sbf2'
| ID |
735380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sbf2
|
| Ensembl Gene |
ENSMUSG00000038371 |
| Gene Name |
SET binding factor 2 |
| Synonyms |
B430219L04Rik, 4833411B01Rik, SBF2, Mtmr13, mMTMH1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
R9652 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
109907220-110214129 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110040702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 375
(Q375R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033058]
[ENSMUST00000164759]
[ENSMUST00000166020]
[ENSMUST00000171218]
|
| AlphaFold |
E9PXF8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033058
AA Change: Q375R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000033058
Gene: ENSMUSG00000038371
AA Change: Q375R
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
1 |
87 |
2.27e-33 |
SMART |
|
DENN
|
116 |
298 |
5.68e-75 |
SMART |
|
dDENN
|
351 |
420 |
2e-20 |
SMART |
|
Pfam:SBF2
|
530 |
752 |
3.3e-106 |
PFAM |
|
GRAM
|
869 |
955 |
1.3e-12 |
SMART |
|
low complexity region
|
1078 |
1089 |
N/A |
INTRINSIC |
|
Pfam:Myotub-related
|
1091 |
1544 |
8.3e-86 |
PFAM |
|
PH
|
1767 |
1872 |
3.05e-18 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000128265
Gene: ENSMUSG00000038371
AA Change: Q25R
| Domain | Start | End | E-Value | Type |
|---|
|
dDENN
|
2 |
74 |
3.04e-2 |
SMART |
|
Pfam:SBF2
|
138 |
177 |
1.6e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164759
AA Change: Q375R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132072
Gene: ENSMUSG00000038371
AA Change: Q375R
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
1 |
87 |
2.27e-33 |
SMART |
|
DENN
|
116 |
298 |
5.68e-75 |
SMART |
|
dDENN
|
351 |
420 |
2e-20 |
SMART |
|
Pfam:SBF2
|
528 |
752 |
1.6e-107 |
PFAM |
|
GRAM
|
869 |
955 |
1.3e-12 |
SMART |
|
Pfam:Myotub-related
|
1089 |
1521 |
1.6e-98 |
PFAM |
|
PH
|
1742 |
1847 |
3.05e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166020
AA Change: Q329R
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126217
Gene: ENSMUSG00000038371
AA Change: Q329R
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
1 |
75 |
9.26e-1 |
SMART |
|
DENN
|
70 |
252 |
5.68e-75 |
SMART |
|
dDENN
|
305 |
374 |
2e-20 |
SMART |
|
Pfam:SBF2
|
482 |
706 |
1.6e-107 |
PFAM |
|
GRAM
|
823 |
909 |
1.3e-12 |
SMART |
|
Pfam:Myotub-related
|
1043 |
1500 |
5.9e-98 |
PFAM |
|
PH
|
1721 |
1826 |
3.05e-18 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000130476
Gene: ENSMUSG00000038371
AA Change: Q191R
| Domain | Start | End | E-Value | Type |
|---|
|
DENN
|
2 |
151 |
1.96e-37 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171218
AA Change: Q375R
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129805
Gene: ENSMUSG00000038371
AA Change: Q375R
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
1 |
87 |
2.27e-33 |
SMART |
|
DENN
|
116 |
298 |
5.68e-75 |
SMART |
|
dDENN
|
351 |
407 |
1.5e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.6%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null alleles display progressive misfolding of myelin sheaths and abnormal nerve electrophysiology. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(11) : Targeted, other(2) Gene trapped(9) |
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l1 |
G |
A |
18: 61,876,432 (GRCm39) |
T395M |
probably damaging |
Het |
| Akap8l |
T |
C |
17: 32,557,783 (GRCm39) |
N35D |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,756,887 (GRCm39) |
L922Q |
probably damaging |
Het |
| B3gnt9 |
G |
T |
8: 105,981,129 (GRCm39) |
F86L |
probably damaging |
Het |
| Bmp1 |
T |
C |
14: 70,715,360 (GRCm39) |
D925G |
probably damaging |
Het |
| Camkmt |
A |
T |
17: 85,759,713 (GRCm39) |
R284S |
probably benign |
Het |
| Cavin3 |
G |
T |
7: 105,131,304 (GRCm39) |
H21Q |
probably damaging |
Het |
| Ccp110 |
A |
G |
7: 118,334,553 (GRCm39) |
H180R |
|
Het |
| Cdh23 |
A |
T |
10: 60,167,135 (GRCm39) |
V1837E |
probably damaging |
Het |
| Ces3b |
G |
T |
8: 105,812,257 (GRCm39) |
A169S |
probably damaging |
Het |
| Chpt1 |
T |
C |
10: 88,325,499 (GRCm39) |
N122S |
probably benign |
Het |
| Cramp1 |
C |
A |
17: 25,201,783 (GRCm39) |
K566N |
probably damaging |
Het |
| Ctbp2 |
C |
G |
7: 132,615,933 (GRCm39) |
R334P |
probably damaging |
Het |
| Cwh43 |
T |
C |
5: 73,572,340 (GRCm39) |
S193P |
probably benign |
Het |
| Dcstamp |
A |
T |
15: 39,623,792 (GRCm39) |
D469V |
probably benign |
Het |
| Dst |
T |
A |
1: 34,219,458 (GRCm39) |
I1966N |
probably benign |
Het |
| Eif3i |
G |
T |
4: 129,489,094 (GRCm39) |
F121L |
probably benign |
Het |
| Erbb2 |
T |
C |
11: 98,326,812 (GRCm39) |
S1074P |
probably damaging |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,146,722 (GRCm39) |
|
probably null |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Gm2a |
T |
C |
11: 54,999,764 (GRCm39) |
V95A |
probably benign |
Het |
| Gp5 |
A |
C |
16: 30,128,393 (GRCm39) |
F94V |
probably damaging |
Het |
| Gramd4 |
G |
A |
15: 86,016,160 (GRCm39) |
E504K |
probably damaging |
Het |
| Gusb |
A |
G |
5: 130,026,652 (GRCm39) |
S450P |
probably damaging |
Het |
| Htr5a |
A |
G |
5: 28,047,838 (GRCm39) |
N131S |
possibly damaging |
Het |
| Itga2 |
G |
A |
13: 115,020,991 (GRCm39) |
P120L |
probably benign |
Het |
| Itpkb |
G |
T |
1: 180,160,056 (GRCm39) |
E61* |
probably null |
Het |
| Katnbl1 |
T |
A |
2: 112,239,497 (GRCm39) |
V232D |
probably damaging |
Het |
| Kifap3 |
T |
C |
1: 163,689,657 (GRCm39) |
L547P |
probably damaging |
Het |
| Krt6a |
C |
T |
15: 101,599,120 (GRCm39) |
V482M |
probably benign |
Het |
| Lrfn5 |
T |
A |
12: 61,890,418 (GRCm39) |
V569D |
probably damaging |
Het |
| Luzp2 |
A |
G |
7: 54,702,580 (GRCm39) |
T48A |
probably damaging |
Het |
| Mical2 |
G |
T |
7: 111,945,996 (GRCm39) |
R986L |
probably damaging |
Het |
| Mroh8 |
G |
A |
2: 157,094,970 (GRCm39) |
Q339* |
probably null |
Het |
| Msln |
A |
T |
17: 25,968,042 (GRCm39) |
V541E |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,498,178 (GRCm39) |
M6590L |
probably benign |
Het |
| Nhsl3 |
T |
C |
4: 129,117,962 (GRCm39) |
E279G |
possibly damaging |
Het |
| Nisch |
A |
T |
14: 30,893,628 (GRCm39) |
V1315E |
probably damaging |
Het |
| Nubp2 |
G |
A |
17: 25,103,382 (GRCm39) |
T165I |
probably damaging |
Het |
| Oog3 |
T |
G |
4: 143,884,489 (GRCm39) |
R482S |
probably benign |
Het |
| Or2a7 |
A |
G |
6: 43,150,991 (GRCm39) |
M24V |
probably benign |
Het |
| Or56a42-ps1 |
A |
T |
7: 104,775,985 (GRCm39) |
N164K |
probably benign |
Het |
| Or6c33 |
T |
C |
10: 129,853,809 (GRCm39) |
I193T |
possibly damaging |
Het |
| Or7a41 |
T |
C |
10: 78,871,230 (GRCm39) |
I200T |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,636 (GRCm39) |
F107I |
probably damaging |
Het |
| P3h4 |
A |
T |
11: 100,304,499 (GRCm39) |
C247* |
probably null |
Het |
| Pakap |
G |
A |
4: 57,710,125 (GRCm39) |
A357T |
possibly damaging |
Het |
| Plch2 |
T |
A |
4: 155,082,942 (GRCm39) |
M569L |
probably benign |
Het |
| Plcl1 |
A |
G |
1: 55,735,450 (GRCm39) |
T264A |
probably benign |
Het |
| Rad51ap1 |
G |
T |
6: 126,904,526 (GRCm39) |
N178K |
probably benign |
Het |
| Rasa4 |
T |
C |
5: 136,130,494 (GRCm39) |
L340P |
probably damaging |
Het |
| Rassf10 |
A |
G |
7: 112,554,784 (GRCm39) |
T462A |
probably benign |
Het |
| Rlf |
G |
C |
4: 121,007,865 (GRCm39) |
L482V |
probably damaging |
Het |
| Robo1 |
T |
G |
16: 72,821,330 (GRCm39) |
S1357A |
possibly damaging |
Het |
| Rp1l1 |
T |
C |
14: 64,269,714 (GRCm39) |
S1767P |
probably damaging |
Het |
| Rpl3l |
T |
A |
17: 24,947,328 (GRCm39) |
L14Q |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,635,047 (GRCm39) |
T2024S |
possibly damaging |
Het |
| Sema6a |
T |
C |
18: 47,382,252 (GRCm39) |
Q765R |
probably damaging |
Het |
| Senp6 |
T |
A |
9: 80,021,228 (GRCm39) |
Y303N |
probably damaging |
Het |
| Sertad4 |
C |
T |
1: 192,528,836 (GRCm39) |
D327N |
probably damaging |
Het |
| Slc22a15 |
T |
A |
3: 101,790,848 (GRCm39) |
Y219F |
possibly damaging |
Het |
| Slco1b2 |
T |
G |
6: 141,594,358 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
G |
T |
2: 127,067,959 (GRCm39) |
V819L |
probably damaging |
Het |
| Ssb |
C |
A |
2: 69,700,784 (GRCm39) |
A288E |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,101,620 (GRCm39) |
H638R |
probably benign |
Het |
| Tm7sf3 |
A |
G |
6: 146,527,698 (GRCm39) |
S43P |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,149,181 (GRCm39) |
H588R |
probably benign |
Het |
| Tnpo3 |
G |
A |
6: 29,560,173 (GRCm39) |
R657* |
probably null |
Het |
| Traf6 |
T |
C |
2: 101,518,927 (GRCm39) |
C139R |
probably damaging |
Het |
| Txnrd1 |
C |
A |
10: 82,720,390 (GRCm39) |
N424K |
possibly damaging |
Het |
| Ubqln3 |
T |
C |
7: 103,791,962 (GRCm39) |
I43V |
probably damaging |
Het |
| Usp32 |
A |
G |
11: 84,921,317 (GRCm39) |
V699A |
probably damaging |
Het |
| Vmn2r103 |
T |
C |
17: 20,014,027 (GRCm39) |
V273A |
probably benign |
Het |
| Vmn2r8 |
A |
G |
5: 108,951,107 (GRCm39) |
S113P |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,860,826 (GRCm39) |
I161N |
probably damaging |
Het |
| Zfp474 |
A |
T |
18: 52,772,015 (GRCm39) |
I223F |
probably damaging |
Het |
| Zfp583 |
A |
G |
7: 6,320,328 (GRCm39) |
L228P |
probably damaging |
Het |
| Zfyve27 |
A |
G |
19: 42,165,856 (GRCm39) |
T76A |
possibly damaging |
Het |
|
| Other mutations in Sbf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Sbf2
|
APN |
7 |
109,975,039 (GRCm39) |
splice site |
probably benign |
|
|
IGL01089:Sbf2
|
APN |
7 |
109,948,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01144:Sbf2
|
APN |
7 |
109,929,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01652:Sbf2
|
APN |
7 |
110,046,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01950:Sbf2
|
APN |
7 |
109,965,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02027:Sbf2
|
APN |
7 |
110,060,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02244:Sbf2
|
APN |
7 |
110,159,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02376:Sbf2
|
APN |
7 |
110,062,163 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03405:Sbf2
|
APN |
7 |
110,062,139 (GRCm39) |
missense |
probably damaging |
0.98 |
|
N/A - 535:Sbf2
|
UTSW |
7 |
109,911,959 (GRCm39) |
missense |
probably benign |
|
|
R0084:Sbf2
|
UTSW |
7 |
110,041,573 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0092:Sbf2
|
UTSW |
7 |
109,920,013 (GRCm39) |
splice site |
probably benign |
|
|
R0121:Sbf2
|
UTSW |
7 |
110,088,426 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0464:Sbf2
|
UTSW |
7 |
110,063,783 (GRCm39) |
splice site |
probably benign |
|
|
R0505:Sbf2
|
UTSW |
7 |
109,998,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0531:Sbf2
|
UTSW |
7 |
109,966,530 (GRCm39) |
splice site |
probably benign |
|
|
R0554:Sbf2
|
UTSW |
7 |
110,027,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Sbf2
|
UTSW |
7 |
109,929,890 (GRCm39) |
frame shift |
probably null |
|
|
R0619:Sbf2
|
UTSW |
7 |
109,909,469 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0799:Sbf2
|
UTSW |
7 |
109,940,562 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0898:Sbf2
|
UTSW |
7 |
109,970,859 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1077:Sbf2
|
UTSW |
7 |
109,966,379 (GRCm39) |
splice site |
probably benign |
|
|
R1167:Sbf2
|
UTSW |
7 |
109,963,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:Sbf2
|
UTSW |
7 |
109,909,391 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1424:Sbf2
|
UTSW |
7 |
109,914,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1536:Sbf2
|
UTSW |
7 |
109,977,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1558:Sbf2
|
UTSW |
7 |
110,027,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1601:Sbf2
|
UTSW |
7 |
109,939,283 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1762:Sbf2
|
UTSW |
7 |
109,911,965 (GRCm39) |
missense |
probably benign |
|
|
R1771:Sbf2
|
UTSW |
7 |
110,060,353 (GRCm39) |
nonsense |
probably null |
|
|
R1989:Sbf2
|
UTSW |
7 |
109,948,130 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2109:Sbf2
|
UTSW |
7 |
110,060,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Sbf2
|
UTSW |
7 |
110,159,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2444:Sbf2
|
UTSW |
7 |
109,929,905 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3765:Sbf2
|
UTSW |
7 |
109,974,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3808:Sbf2
|
UTSW |
7 |
110,088,487 (GRCm39) |
makesense |
probably null |
|
|
R3895:Sbf2
|
UTSW |
7 |
110,046,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3978:Sbf2
|
UTSW |
7 |
109,929,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4056:Sbf2
|
UTSW |
7 |
110,040,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4057:Sbf2
|
UTSW |
7 |
110,040,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4111:Sbf2
|
UTSW |
7 |
110,027,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Sbf2
|
UTSW |
7 |
109,948,060 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4670:Sbf2
|
UTSW |
7 |
109,934,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4763:Sbf2
|
UTSW |
7 |
110,020,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Sbf2
|
UTSW |
7 |
109,950,817 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4811:Sbf2
|
UTSW |
7 |
109,971,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Sbf2
|
UTSW |
7 |
109,977,146 (GRCm39) |
intron |
probably benign |
|
|
R5110:Sbf2
|
UTSW |
7 |
109,963,864 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5143:Sbf2
|
UTSW |
7 |
110,021,747 (GRCm39) |
nonsense |
probably null |
|
|
R5443:Sbf2
|
UTSW |
7 |
109,977,135 (GRCm39) |
intron |
probably benign |
|
|
R5457:Sbf2
|
UTSW |
7 |
109,912,037 (GRCm39) |
missense |
probably benign |
|
|
R5641:Sbf2
|
UTSW |
7 |
110,038,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5915:Sbf2
|
UTSW |
7 |
109,977,303 (GRCm39) |
nonsense |
probably null |
|
|
R5948:Sbf2
|
UTSW |
7 |
110,088,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5977:Sbf2
|
UTSW |
7 |
109,977,193 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6052:Sbf2
|
UTSW |
7 |
110,040,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6142:Sbf2
|
UTSW |
7 |
109,948,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6327:Sbf2
|
UTSW |
7 |
110,040,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6356:Sbf2
|
UTSW |
7 |
109,971,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Sbf2
|
UTSW |
7 |
110,062,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6587:Sbf2
|
UTSW |
7 |
110,040,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6696:Sbf2
|
UTSW |
7 |
110,159,505 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6986:Sbf2
|
UTSW |
7 |
109,929,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7147:Sbf2
|
UTSW |
7 |
110,046,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7358:Sbf2
|
UTSW |
7 |
109,998,555 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7414:Sbf2
|
UTSW |
7 |
109,913,271 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7418:Sbf2
|
UTSW |
7 |
109,965,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7423:Sbf2
|
UTSW |
7 |
110,038,055 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7425:Sbf2
|
UTSW |
7 |
109,974,984 (GRCm39) |
nonsense |
probably null |
|
|
R7431:Sbf2
|
UTSW |
7 |
109,950,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7497:Sbf2
|
UTSW |
7 |
110,213,923 (GRCm39) |
nonsense |
probably null |
|
|
R7556:Sbf2
|
UTSW |
7 |
109,913,260 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7604:Sbf2
|
UTSW |
7 |
109,977,274 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7707:Sbf2
|
UTSW |
7 |
109,929,920 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7746:Sbf2
|
UTSW |
7 |
110,040,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7812:Sbf2
|
UTSW |
7 |
110,049,170 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7849:Sbf2
|
UTSW |
7 |
109,971,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8026:Sbf2
|
UTSW |
7 |
109,934,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8048:Sbf2
|
UTSW |
7 |
109,914,289 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8305:Sbf2
|
UTSW |
7 |
109,970,825 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8337:Sbf2
|
UTSW |
7 |
110,040,669 (GRCm39) |
missense |
probably benign |
|
|
R8773:Sbf2
|
UTSW |
7 |
109,948,202 (GRCm39) |
missense |
probably benign |
|
|
R8786:Sbf2
|
UTSW |
7 |
110,063,793 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8812:Sbf2
|
UTSW |
7 |
109,929,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Sbf2
|
UTSW |
7 |
110,049,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8932:Sbf2
|
UTSW |
7 |
110,040,155 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8954:Sbf2
|
UTSW |
7 |
110,038,118 (GRCm39) |
nonsense |
probably null |
|
|
R8991:Sbf2
|
UTSW |
7 |
109,911,896 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9119:Sbf2
|
UTSW |
7 |
109,911,292 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9310:Sbf2
|
UTSW |
7 |
109,914,292 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9344:Sbf2
|
UTSW |
7 |
109,940,535 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9346:Sbf2
|
UTSW |
7 |
109,919,946 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9404:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9406:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9408:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9472:Sbf2
|
UTSW |
7 |
109,970,798 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9554:Sbf2
|
UTSW |
7 |
110,040,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9624:Sbf2
|
UTSW |
7 |
109,963,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9653:Sbf2
|
UTSW |
7 |
110,040,702 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9709:Sbf2
|
UTSW |
7 |
110,027,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF005:Sbf2
|
UTSW |
7 |
109,916,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCCAAAAGGACAAGGGG -3'
(R):5'- TATGCCTGTTGCCTGGGAAG -3'
Sequencing Primer
(F):5'- TCTGAAGGAAAATATTACACCAACTC -3'
(R):5'- CTGTTGCCTGGGAAGACGAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation